Strategic Approaches to Unraveling Genetic Causes of Cardiovascular Diseases

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

(2011) Benjamin Meder et al.   Circulation-Cardiovascular Genetics

Initial impact of the sequencing of the human genome

(2011) Eric S. Lander   NATURE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

(2011) John F Peden et al.   NATURE GENETICS

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

(2011) M. Choi et al.   SCIENCE

A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on Disease

(2011) Iuliana Ionita-Laza et al.   PLoS Genetics

High-throughput DNA sequencing - concepts and limitations

(2010) Martin Kircher et al.   BIOESSAYS

Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export

(2010) Mads Kjolby et al.   Cell Metabolism

Blood pressure and human genetic variation in the general population

(2010) Pankaj Arora et al.   CURRENT OPINION IN CARDIOLOGY

Genetics of lipid disorders

(2010) James Pirruccello et al.   CURRENT OPINION IN CARDIOLOGY

The genetics of dilated cardiomyopathy

(2010) Lisa Dellefave et al.   CURRENT OPINION IN CARDIOLOGY

Hypertrophic cardiomyopathy: from genetics to treatment

(2010) Ali J. Marian   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genomic Analysis of Mental Illness

(2010) Jon McClellan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Towards building a chromosome segregation machine

(2010) Kerry Bloom et al.   NATURE

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

(2010) Axel Visel et al.   NATURE

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

(2010) Nona Sotoodehnia et al.   NATURE GENETICS

Mendelian disorders and multifactorial traits: the big divide or one for all?

(2010) Stylianos E. Antonarakis et al.   NATURE REVIEWS GENETICS

A picture worth 1000 Genomes

(2010) Chris Gunter   NATURE REVIEWS GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Survey of SNPs in the Affymetrix Exon Array Using the 1000 Genomes Dataset

(2010) Eric R. Gamazon et al.   PLoS One

Magnitude of Stratification in Human Populations and Impacts on Genome Wide Association Studies

(2010) Ke Hao et al.   PLoS One

Variation in Transcription Factor Binding Among Humans

(2010) M. Kasowski et al.   SCIENCE

Revealing the Dark Matter of the Genome

(2010) M. Blaxter   SCIENCE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

1000 Genomes Project Gives New Map of Genetic Diversity

(2010) Elizabeth Pennisi   SCIENCE

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project

(2010) M. B. Gerstein et al.   SCIENCE

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction

(2009) Marcus E. Kleber et al.   ATHEROSCLEROSIS

Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease

(2009) Patrick Linsel-Nitschke et al.   ATHEROSCLEROSIS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Mice Heterozygous for Germ-line Mutations in Methylthioadenosine Phosphorylase (MTAP) Die Prematurely of T-Cell Lymphoma

(2009) Y. Kadariya et al.   CANCER RESEARCH

Comprehensive Whole-Genome and Candidate Gene Analysis for Response to Statin Therapy in the Treating to New Targets (TNT) Cohort

(2009) John F. Thompson et al.   Circulation-Cardiovascular Genetics

Nature’s Genetic Gradients and the Clinical Phenotype

(2009) Ali J. Marian   Circulation-Cardiovascular Genetics

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The SLCO1B1*5Genetic Variant Is Associated With Statin-Induced Side Effects

(2009) Deepak Voora et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A highly annotated whole-genome sequence of a Korean individual

(2009) Jong-Il Kim et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

(2009) Arne Pfeufer et al.   NATURE GENETICS

Erratum: Corrigendum: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

(2009)   NATURE GENETICS

The UCSC Genome Browser database: update 2010

(2009) B. Rhead et al.   NUCLEIC ACIDS RESEARCH

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

(2008) T. Dechat et al.   GENES & DEVELOPMENT

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE

Cytochrome P-450 Polymorphisms and Response to Clopidogrel

(2008) Jessica L. Mega et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Determinants of Response to Clopidogrel and Cardiovascular Events

(2008) Tabassome Simon et al.   NEW ENGLAND JOURNAL OF MEDICINE